Linked Data
dbSNP Id:
rs765098981
gnomAD v2:
21-33032204-T-TC
gnomAD v4:
21-31659891-T-TC
MyVariant Identifiers:
chr21:g.33032205_33032206insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659897dup , CM000683.2:g.31659897dup | GRCh38 |
| NC_000021.8:g.33032210dup , CM000683.1:g.33032210dup | GRCh37 |
| NC_000021.7:g.31954081dup | NCBI36 |
| NG_008689.1:g.5276dup , LRG_652:g.5276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+56dup MANE Select | ENSP00000270142.7:n.72+56dup | |
| ENST00000270142.10:c.72+56dup | ENSP00000270142.6:n.72+56dup | |
| ENST00000389995.4:c.15+113dup | ENSP00000374645.4:n.15+113dup | |
| ENST00000470944.1:n.189dup | ||
| ENST00000476106.5:n.149+56dup | ||
| NM_000454.4:c.72+56dup , LRG_652t1:c.72+56dup | NP_000445.1:n.72+56dup | |
| NM_000454.5:c.72+56dup MANE Select | NP_000445.1:n.72+56dup |